Duchenne Muscular Dystrophy

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Duchenne Muscular Dystrophy is not the name you expected.

Disorder Subdivisions

None

General Discussion

SummaryDuchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most frequent genetic conditions affecting approximately 1 in 3,500 male births worldwide. It is usually recognized between three and six years of age. DMD is characterized by weakness and wasting (atrophy) of the muscles of the pelvic area followed by the involvement of the shoulder muscles. As the disease progresses, muscle weakness and atrophy spread to affect the trunk and forearms and gradually progress to involve additional muscles of the body. In addition, the calves appear enlarged in most patients. The disease is progressive and most affected individuals require a wheelchair by the teenage years. Serious life-threatening complications may ultimately develop including disease of the heart muscle (cardiomyopathy) and breathing (respiratory) difficulties.DMD is caused by changes (mutations) of the DMD gene on the X chromosome. The gene regulates the production of a protein called dystrophin that is found in association with the inner side of the membrane of skeletal and cardiac muscle cells. Dystrophin is thought to play an important role in maintaining the membrane (sarcolemma) of muscle cells.

IntroductionMuscular dystrophies are characterized by specific abnormalities (e.g. variation of muscle fiber size, muscle fiber necrosis, scar tissue formation and inflammation) in muscle biopsy from the patients. Approximately 30 different genetic conditions make up the muscular dystrophies. DMD is classified as a dystrophinopathy. The dystrophinopathies are a spectrum of muscle diseases, each caused by alterations in the dystrophin gene. The most severe end of the spectrum is known as Duchenne muscular dystrophy lacking completely dystrophin protein. Decreased or truncated dystrophin protein is associated with less severe form is Becker muscular dystrophy.

The clinical hallmarks of DMD include weakness and wasting of various voluntary muscles of the body. In most advanced stages of the disease, the heart and gut muscles will be affected.

Supporting Organizations

Child Neurology Foundation

201 Chicago Ave, #200

Minneapolis, MN 55415

USA

Tel: (952)641-6100

Fax: (952)881-6276

Tel: (877)263-5430

Email: jstone@childneurologyfoundation.org

Website: http://www.childneurologyfoundation.org

CureDuchenne

1400 Quail Street, Suite 110

Newport Beach, CA 92660

USA

Tel: (949)872-2552

Fax: (949)872-2568

Email: info@cureduchenne.org

Website: http://www.CureDuchenne.org

DuchenneConnect

Emory University, Department of Human Genetics

2165 N. Decatur Road

Atlanta, GA 30033

Tel: (404)778-0553

Fax: (404)935-0636

Email: coordinator@duchenneconnect.org

Website: http://www.duchenneconnect.org

European Alliance of Neuromuscular Disorders Associations

Linhartova 1

SI-1000 Ljubljana

Slovenia, GAR 04

Malta

Tel: 386 (0)1 47 20 500

Email: info@eamda.eu

Website: http://www.eamda.eu/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Website: http://www.letthemhear.org

March of Dimes

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Email: AskUs@marchofdimes.org or preguntas@nacersano.org

Website: http://www.marchofdimes.org and nacersano.org

Medical Home Portal

Dept. of Pediatrics

University of Utah

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Website: http://www.medicalhomeportal.org

Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson, AZ 85718-3208

USA

Tel: (520)529-2000

Fax: (520)529-5300

Tel: (800)572-1717

Email: mda@mdausa.org

Website: http://www.mda.org/

Muscular Dystrophy Association of Kosovo

Str"Ardian Krasnici N:6/22

Prishtina, 10000

Republic of Kosovo

Tel: 38138247721

Fax: 38138247721

Email: gimi_mda@yahoo.com

Muscular Dystrophy Campaign

61 Southwark Street

London, SE1 0HL

United Kingdom

Tel: 2078034800

Email: info@musculardystrophyuk.org

Website: http://www.muscular-dystrophy.org

Muscular Dystrophy Canada

2345 Yonge Street Suite 900

Toronto

Ontario, M4P 2E5

Canada

Tel: 4164880030

Fax: 4164887523

Tel: 866MUSCLE8

Email: info@muscle.ca

Website: http://www.muscle.ca

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

New Horizons Un-Limited, Inc.

811 East Wisconsin Ave

P.O. Box 510034

Milwaukee, WI 53203

USA

Tel: (414)299-0124

Fax: (414)347-1977

Email: horizons@new-horizons.org

Website: http://www.new-horizons.org

Parent Project Muscular Dystrophy

401 Hackensack Avenue, 9th Floor

Hackensack, NJ 07601

USA

Tel: (201)944-9985

Fax: (201)944-9987

Tel: (800)714-5437

Email: info@parentprojectmd.org

Website: http://www.parentprojectmd.org

Society for Muscular Dystrophy Information International

P.O. Box 7490

Nova Scotia, B4V 2X6

Canada

Tel: 9026853961

Fax: 9026853962

Email: smdi@auracom.com

Website: http://www.nsnet.org/smdi/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 6/21/2016Copyright 2016 National Organization for Rare Disorders, Inc.

Topic Contents

PeaceHealth endeavors to provide comprehensive health care information, however some topics in this database describe services and procedures not offered by our providers or within our facilities because they do not comply with, nor are they condoned by, the ethics policies of our organization.

This information does not replace the advice of a doctor. Healthwise, Incorporated, disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Learn how we develop our content.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.